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Clinical Genetics and Metabolism - Fellowship/Residency



Clinical Genetics & Metabolism Fellows

Austin Larson, MD (PGY5) and Yazmin Enchautegui Colon, MD, (PGY4)


1st Year Fellow

Yazmin Enchautegui Colon, MD

Medical School: Universidad Autonoma de Guadalajara

Residency Program: Hospital de la Concepcion

Research Interest: TBD

Email: Yazmin.EnchautequiColon


2nd Year Fellow

Austin Larson, MD

Medical School: Brown Medical School

Residency Program: University of Colorado Pediatric Residency Program

Research Interest: Use of exome sequencing to determine genetic etiologies of septo-optic dysplasia

Email: Austin.Larson


Please Submit Application to:

Janet A. Thomas, MD

Director, Genetics Residency and Fellowship

Clinical Genetics and Metabolism

Children's Hospital Colorado

13123 East 16th Avenue, B-15

Aurora, Colorado 80045


  1. A curriculum vitae containing the following information:
    Mailing address
    E-mail address (if available)
    Telephone number
    Fax number (if available)
  2. An MD or DO degree from a U.S. medical school, or an ECFMG certificate for foreign medical school graduates.
  3. Residents in our program must be a U.S. citizen, lawful permanent resident, refugee, asylee, or possess the appropriate documentation to legally train at the University of Colorado School of Medicine.
  4. Successful completion of at least 2 years of other residency training in any Accreditation Council of Graduate Medical Education (ACGME) recognized medical specialty, such as pediatrics, internal medicine, ophthalmology, obstetrics and gynecology, etc.
  5. A brief statement describing your current career plans.
  6. Three (3) reference letters of support from the dean, faculty and/or instructors from the 1st and/ or 2nd year of medical specialty residency training.

Important Dates

Genetics NRMP Important Dates 2015.png


Following receipt of a completed application (CV, required documentation, statement of plans, 3 letters of support, copy of USMLE Scores for Steps 1, 2 CK, 2CS, and step 3, and copy of current/previous residency completion letter), the information will be reviewed and qualified applicants will be selected for an interview. Not all applicants will be interviewed. Selection criteria for interviews will include:

  1. Quality of the medical school training and performance.
  2. Quality of residency training and performance.
  3. Quality of letters of support.
  4. Obtaining all actual forms for USMLE Scores for all steps 1, 2, and 3.
  5. Obtaining current/previous residency completion letter.

Candidates selected will then be interviewed by a majority of the training faculty, and candidates will have an opportunity to meet with the current trainees as well as visit the clinical and laboratory facilities associated with the program.

Once selected candidates have been interviewed, faculty from Clinical Genetics and Metabolism will collectively decide which candidates to offer positions to. In addition to the criteria listed above, faculty will also consider:

  1. The candidate's personality and communication skills.
  2. Perceived commitment to patient care.
  3. Perceived commitment to a career in genetics.
  4. Special personal circumstances or special personal attributes.

The number of positions offered in both the Medical Genetic Residency and the Postdoctoral Fellowship Training Programs will depend upon available funds.

The duration of the residency is a minimum of 2 years, and proportionately more, if the trainee is extensively involved in a bench research.

Based on the resident's interest, additional fellowship training in molecular, biochemical or cytogenetics might be available. Achieving an ABMG eligibility in any of these additional disciplines requires a year of training to be added to the residency.


Year 1 Objectives

Each resident will become proficient in:

  1. Taking family history, constructing a pedigree and determining possible modes of inheritance.
  2. Performing dysmorphology examinations.
  3. Developing a differential diagnosis.
  4. Developing appropriate management plans.
  5. Assessing and explaining the mode of inheritance and the recurrence risks.
  6. Proposing appropriate alternatives to recurrence.
  7. Writing professional summaries of clinic sessions, letters to referring physicians and patients.
  8. Ordering appropriate diagnostic tests.
  9. Learning the ethical principles of genetic evaluations and counseling.
  10. Learning the psychosocial aspects of genetic disorders.
  11. Presenting patients to attending and to peer-review conferences


Year 2 Objectives

Each resident will become proficient in:

  1. Recognition of the phenotypic variability of various genetic disorders and utilization of this knowledge in the differential diagnosis.
  2. Choosing the appropriate tests for making or ruling out suspected genetic diseases, including the appropriate choice of material to be tested.
  3. Interpretation of results of cytogenetic, molecular and biochemical tests, their clinical significance and limitations.
  4. Communication of genetic information on a level appropriate for the patient's educational status


The overall goal of the program is to train highly competent clinical medical geneticists who are able to provide state-of-the-art diagnostic, management and counseling services for a wide variety of genetic disorders.

The resident's assignments during the 2-year genetic residency are based on each activity's educational value toward achieving the program objectives and are not dictated by the service needs.


Genetic Residency Training Components


Didactic Component

The residents audit graduate-level courses covering the basic science and its clinical applications in:

  • Biochemical Genetics
  • Molecular Genetics
  • Cytogenetics
  • Quantitative Genetics
  • Genetics of Cancer, Embryology and Dysmorphology
  • Overview of Human Genetics

They will also audit courses on the psychosocial, ethical and legal issues in clinical genetics. Additionally, they will regularly attend genetic seminars and conferences.

Educational Objectives:

  1. To acquire the basic science knowledge in all areas of genetics and learn to apply it to specific clinical situations.
  2. To be exposed to presentations given by local and nationally known scientists; to gain the most current scientific information; to learn how to/not to structure a presentation; to establish professional contacts with nationally known scientists for possible future scientific collaboration.



Clinical Component

Residency training includes extensive clinical involvement in the evaluation and counseling of children and adults.


Outpatient Clinics

Residents are assigned for a 6-month rotation to General Genetics/ Dysmorphology and Inherited Metabolic Disease clinics, and for a 3-month rotation to Prenatal Diagnosis and Familial Cancer clinics. Additionally, they are assigned to Neuromuscular Clinic, Neurocutaneous Clinic, Hemophilia, Cystic Fibrosis, Cleft Lip/Palate and Spina Bifida multi-specialty management clinics and Fragile X evaluation and management clinics.


After gaining initial experience in genetic patient evaluations, they are assigned to participate with the Genetic Service team in patient evaluation in Colorado-Wyoming Outreach Clinics. Residents, not assigned to any laboratory rotation, will participate in outpatient clinic evaluations 1 to 2 days per week throughout the residency training.


Inpatient Experience and "On Call" Schedule

During the regular daytime hours, residents are notified of each request for consult. The resident is the first to respond to the consult.


On call genetic faculty call residents during the off-hours anytime there is a consult for a rare condition or if it has significant educational value for other reasons.


Goals and Objectives of Rotations

The goals and objectives of all of these rotations for the residents are:


  1. To see at least 100 patients annually.

  2. To be exposed to the greatest possible variety of genetic disorders.

  3. To have the opportunity to appreciate the phenotypic variability of these disorders.

  4. To gain competency for diagnosing genetic diseases, including the recognition of the physical features, clinical variability and natural history, all of which will help to formulate a differential diagnosis.

  5. To understand the benefits and limitations of diagnostic tests; indications for ordering the tests and interpretation of test results.

  6. To gain competency to understand management choices for the patients, including medical as well as ethical and psychosocial considerations.

  7. To develop counseling skills allowing them to interact with the family and provide genetic counseling in a sensitive, individualized professional manner.

  8. To be comfortable communicating the impressions and recommendations from patient evaluations to other health professionals.


Educational Objectives of Specific Clinic Rotations


IMD Clinic (Inborn Metabolic Diseases):

  • to recognize the symptoms of IMD in medical emergency situations

  • to know what screening/testing a PCP should order in emergency situations

  • to interpret the metabolic results


Prenatal Diagnosis Clinic:

  • to learn the differential diagnosis of abnormalities detected by prenatal ultrasound

  • to understand the implications of maternal serum screening tests results and indications for further testing

  • to learn what prenatal techniques and at what gestational age are appropriate to address the parents' concerns

  • to be able to accept and support all parental decisions regarding the management of an abnormal fetus


Hereditary Cancer Clinic:

  • to understand the hereditary bases of familial cancers

  • to learn the clinical variability of cancer syndromes

  • to gain the current knowledge regarding diagnostic and pre-symptomatic molecular testing in hereditary cancer families, including the psychosocial considerations

  • to understand the indications, benefits and potential harm of testing


Hemophilia Clinic:

  • to learn the genetic mechanisms involved in bleeding disorders

  • to understand the burden of these disorders, the natural histories and treatment modalities

  • to be able to provide genetic counseling and order carrier testing


Neurocutaneous Clinic:

  • to learn the current diagnostic criteria for NF and TSC

  • to understand the natural history and indications for available interventions

  • to know the status of molecular testing for these conditions


Neuromuscular Clinic:

  • to recognize the phenotypes of the hereditary neuromuscular disorders

  • to understand the genetic bases of these disorders

  • to become familiar with the available molecular and other diagnostic and carrier testing


Cleft Palate Clinic:

  • to differentiate isolated facial cleft from syndromes associates with clefts


Sickle Cell Clinic:

  • to learn the phenotypes and genetic bases of hemoglobinopathies


Cystic Fibrosis Clinic:

  • to learn about the burden of the disorder and prevention of complications and treatment modalities


Laboratory Component


The residents are assigned for a minimum 2-week rotation (maximum 3 months) through each of the following clinical diagnostic genetic laboratories:

  1. Cytogenetics Laboratory - Loris McGavran, PhD, Director

  2. Molecular Genetics Laboratory - Elaine Spector, PhD, Director

  3. Biochemical Genetics Laboratory - Stephen I. Goodman, MD, Director


Goals and Education Objectives: 

  1. To understand the diagnostic techniques used at the laboratory.

  2. To learn the advantages and limitations of each test.

  3. To learn what specimens are used for each test.

  4. To interpret the clinical significance of the test results, the need for further testing to clarify any ambiguity or further define an abnormality.


Note: The objective is NOT to be proficient in performing the tests.



Research Component

Each resident will be involved in a clinical or bench research project and in submission of an abstract and preparation of a manuscript, which may be a case report. The chosen project has to have a realistic chance to produce publishable results before the completion of residency.


Goals and Educational Objectives:

  1. To learn research methodology.

  2. To learn an approach to a clinical research study.

  3. To learn about Informed Consent and IRB approval process.

  4. To learn how to evaluate the results, including the utilization of statistical methods.

  5. To experience writing and the submission of an abstract to a national meeting.

  6. To experience writing and submitting a manuscript.